Canonical Allele Identifier: CA246538
Gene: GALK1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.75758530G>A
GRCh37 chr17:g.73754611G>A
Revel Score:
ENST00000225614 0.827
ENST00000437911 0.827
ENST00000375188 0.827
gnomAD v2:
17:73754611 G / A
gnomAD v3:
17:75758530 G / A
gnomAD v4:
chr17-75758530-G-A
Joint Max Group AF 0.00001369 (AMR)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001855 (AMR)
ClinVar RCV:
RCV000179261
RCV000670855
ClinVar Variation:
198048
dbSNP:
759284637
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75758530G>A , CM000679.2:g.75758530G>A GRCh38
NC_000017.10:g.73754611G>A , CM000679.1:g.73754611G>A GRCh37
NC_000017.9:g.71266206G>A NCBI36
NG_007372.1:g.42096G>A
NG_008079.1:g.11670C>T
NG_008079.2:g.11670C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587707.2:c.895C>T ENSP00000468341.2:n.895C>T
ENST00000592997.6:c.773C>T ENSP00000464765.2:p.Thr258Met
ENST00000588479.6:c.863C>T MANE Select ENSP00000465930.1:p.Thr288Met
ENST00000225614.6:c.863C>T ENSP00000225614.1:p.Thr288Met
ENST00000587707.1:c.649C>T ENSP00000468341.1:n.649C>T
ENST00000588479.5:c.863C>T ENSP00000465930.1:p.Thr288Met
ENST00000592997.5:c.239C>T ENSP00000464765.1:p.Thr80Met
NM_000154.1:c.863C>T NP_000145.1:p.Thr288Met
NM_000154.2:c.863C>T MANE Select NP_000145.1:p.Thr288Met
NM_001381985.1:c.863C>T NP_001368914.1:p.Thr288Met
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